Canonical Allele Identifier: CA415077689
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690444C>G , CM000685.2:g.153690444C>G GRCh38
NC_000023.10:g.152955899C>G , CM000685.1:g.152955899C>G GRCh37
NC_000023.9:g.152609093C>G NCBI36
NG_012016.1:g.7148C>G
NG_012016.2:g.7148C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.332C>G MANE Select ENSP00000253122.5:p.Ser111Trp
ENST00000675713.1:n.86C>G
ENST00000253122.9:c.332C>G ENSP00000253122.5:p.Ser111Trp
ENST00000430077.6:c.-14C>G ENSP00000403041.2:n.-14C>G
ENST00000476466.1:n.184C>G
NM_001142805.1:c.332C>G NP_001136277.1:p.Ser111Trp
NM_001142806.1:c.-14C>G NP_001136278.1:n.-14C>G
NM_005629.3:c.332C>G NP_005620.1:p.Ser111Trp
NM_005629.4:c.332C>G MANE Select NP_005620.1:p.Ser111Trp
NM_001142805.2:c.332C>G NP_001136277.1:p.Ser111Trp